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Series GSE44592 Query DataSets for GSE44592
Status Public on Jan 29, 2014
Title Restless Legs Syndrome-associated variant in MEIS1 confers altered gene expression in embryonic ganglionic eminences
Organism Mus musculus
Experiment type Expression profiling by array
Summary Genome-wide association studies (GWASs) identified the MEIS1 locus for Restless Legs Syndrome (RLS), but causal single nucleotide polymorphisms (SNPs) and the functional relevance have remained to be elucidated. The MEIS1 locus contains an exceptionally large number of highly conserved non-coding regions (HCNRs), which potentially function as cis-regulatory modules. We analyzed the HCNRs in the RLS-associated linkage disequilibrium (LD) block for allele-dependent enhancer activity in both zebrafish and mouse, comparing the protective and risk alleles of RLS-associated common variants. We found one enhancer, harboring the lead SNP rs12469063, which showed an allele-dependent reduction of reporter gene expression exclusively in the embryonic ganglionic eminences at developmental stage E12.5. Notably, the reporter activity overlapped with the endogenous telencephalic Meis1 expression domain, which co-localized with transcripts of all four validated RLS loci. Thus, the developing telencephalon represents the first neuroanatomic region implicated for RLS based on GWAS findings.
Overall design Total RNA obtained from 2-3 male and female mice E12.5 (wildtype, heterzygote, homozygote) and 3-4 male heterozygote and wildtype mice (adult)
Contributor(s) Beckers J, Horsch M
Citation(s) 24642863
Submission date Feb 22, 2013
Last update date Jun 14, 2018
Contact name Martin Irmler
Organization name Helmholtz Zentrum M√ľnchen GmbH
Department Institute of Experimental Genetics
Lab Gene Regulation & Epigenetics
Street address Ingolstaedter Landstrasse 1
City Neuherberg
State/province Bayern
ZIP/Postal code 85764
Country Germany
Platforms (1)
GPL6885 Illumina MouseRef-8 v2.0 expression beadchip
Samples (23)
GSM1087494 forebrain_hom_male_rep1
GSM1087495 forebrain_het_male_rep1
GSM1087496 forebrain_het_male_rep2
BioProject PRJNA190599

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE44592_RAW.tar 3.1 Mb (http)(custom) TAR
GSE44592_non-normalized.txt.gz 3.5 Mb (ftp)(http) TXT
Raw data are available on Series record
Processed data included within Sample table

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